人及小鼠钠通道SCN3A基因的启动子及其上游调控区的分析  

Characterization of The Promoter Region and Upstream Regulation Region of Human and Mouse SCN3A Gene

作　　者：龙跃生[1] 赵绮华[1] 曾涛[1] 曾杨[1] 孙卫文[1] 廖卫平[1] 

机构地区：[1]广州医学院第二附属医院神经科学研究所,神经遗传与离子通道病省部共建教育部重点实验室,广州510260

出　　处：《生物化学与生物物理进展》2009年第3期339-345,共7页Progress In Biochemistry and Biophysics

基　　金：国家自然科学基金资助项目(30600198);广东省自然科学基金博士科研启动项目(06301101);广东省名医工程研究项目(粤卫[2004]18号)~~

摘　　要：为了比较研究人与小鼠SCN3A基因的启动子及其上游调控区的特征,采用5′-FullRACE方法对人及小鼠SCN3A基因的转录起始点进行了准确定位,通过序列测定及对比分析证明:确定人和小鼠SCN3A基因的转录起始点均为"A",人SCN3A基因转录起始点位于翻译起始点上游约27kb处,而小鼠位于翻译起始点上游约31kb处.人SCN3A基因5′非翻译区存在两个5′非翻译外显子,而小鼠只有一个5′非翻译外显子.人和小鼠SCN3A基因核心启动子区(-80～+70)的同源率高达96.0%,存在相同的启动子核心元件,BRE/和TATA;在-400至+200区段内预测到人存在而小鼠不存在的转录因子有PHR1、GATA-1、FOXN2、NF-1及AP-4,小鼠存在而人不存在的转录因子Sp、Sp3及GBF.人和小鼠SCN3A启动子区特征的异同将为进一步研究该基因在人和小鼠的表达调控机制提供重要线索.To characterize the promoter region and upstream regulation region of human and mouse SCN3A gene, 5′-Full RACE was performed to identify that the nucleotide ＂A＂ was identified as the transcription start site, which locate 27 kb upstream of the translation start site of human SCN3A and 31 kb upstream of the translation start site of mouse SCN3A. Two 5′-untranslated exons of human SCN3A and one 5′-untranslated exon of mouse SCN3A were found by sequence blast. The core promoter region （-80 ～ ＋70） of human SCN3A showed 96% nucleotide homology with that of mouse. Two core promoter elements, BRE and TATA, were predicted in the region of -80~＋70 from both human and mouse. The transcriptional factors PHR1, GA TA-1, FOXN2, NF-1 and A P-4 predicted in the region of-400 to ＋200 of human SCN3A, not found in mouse SCN3A, and the transcriptional factors Sp, Sp3 and GBFpredicted in the region of-400 to ＋200 of mouse SCN3A, not found in human SCN3A. The comparison between the promoter region of human and mouse SCN3A may provide an important clue to explore the mechanisms of the regulations of human and mouse SCN3A expression.

关 键 词：转录起始点 电压门控型钠通道 SCN3A 启动子 

分 类 号：R742[医药卫生—神经病学与精神病学]